Canonical Allele Identifier: PA275305
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197701
ClinVar RCV Id: RCV000178813 RCV001249026
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Leu144Arg
CA275304
NM_001005741.2:c.431T>G